Please provide your email address to receive an email when new articles are posted on . Patients with certain conotruncal cardiac defects should be screened in the prenatal/neonatal period for ...
Chromosome 6p25 deletion syndrome is a rare but significant genetic disorder that arises from a deletion affecting the terminal region of the short arm of chromosome 6. This region encompasses several ...
A mother says her “gut instinct” told her something was wrong with her baby boy immediately after she gave birth — and doctors soon delivered a devastating diagnosis. Hannah Doyle’s son, Zander, was ...
The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2 ...
A content creator who suffers from a genetic disorder known as 22q syndrome has been flooded with well-wishes after being hospitalized. Justin Gigliotti from Boston—who goes by the name "Justin G" on ...
Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge ...
A mother who was puzzled that her newborn looked nothing like her asked doctors to investigate, and was stunned when he was diagnosed with a rare chromosome syndrome. As Hannah Doyle, 36, cradled baby ...
Purpose: The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has ...
November 30, 2011 (Montreal, Quebec) — Partial or complete deletion of a specific gene, the MBD5 gene, on a specific region of chromosome 2 has been identified in every single individual affected by a ...
The definitive diagnosis of fetal aneuploidy and genomic imbalances requires invasive collection of fetal cells through amniocentesis or chorionic villus sampling. These methods are associated with ...
Scientists succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome. Persons with this condition have three copies of this chromosome. The method ...
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